title: Exploring the link between dystonia genes and idiopathic scoliosis.
abstract: BACKGROUND
  Adolescent idiopathic scoliosis (AIS) is characterized by a complex curvature of the spine of unknown etiology. Unknown genetic factors likely play a role in disease pathogenesis. Recent studies suggest that AIS could result from central nervous system dysfunction and be related to dystonia. On the basis of this information, we hypothesized that genes linked to dystonia contribute to the pathogenesis of AIS.
  
  
  METHODS
  To test this hypothesis, we evaluated the potential association between sequence variants in candidate dystonia genes and AIS. We sequenced the coding region of 5 selected dystonia-causing genes in 24 subjects with AIS, followed by targeted confirmation in additional 89 patients and 73 controls.
  
  
  RESULTS
  No mutations were identified in any of the dystonia genes studied.
  
  
  CONCLUSIONS
  We found no genetic link between dystonia and AIS.
  
  
  CONCLUSIONS
  This investigation is a genetic evaluation of the association between dystonia and AIS. Despite the support in the literature for a pathogenic link between both the disorders, we have not identified any mutations in dystonia genes in patients with AIS.
authors.affiliation: Department of Neurology, Roy J and Lucille Carver College of Medicine, The University of Iowa, Iowa City, IA 52242, USA. pedro-gonzalez-alegre@uiowa.edu
authors.forename: Pedro
authors.initials: P
authors.lastname: Gonzalez-Alegre
authors.forename: Valerie
authors.initials: V
authors.lastname: Buffard
authors.forename: Kai
authors.initials: K
authors.lastname: Wang
authors.forename: Shady
authors.initials: S
authors.lastname: Henien
authors.forename: Jose A
authors.initials: JA
authors.lastname: Morcuende
mesh_terms: D000293:Adolescent; D004421:Dystonia / Q000235:genetics*; D004422:Dystonia Musculorum Deformans / Q000235:genetics; D006801:Humans; D009154:Mutation; D012600:Scoliosis / Q000235:genetics*